Canonical Allele Identifier: CA10051549
Gene: AIRE HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.44287085C>G
GRCh37 chr21:g.45706968C>G
Revel Score:
ENST00000291582 (MANE Select) 0.278
gnomAD v2:
21:45706968 C / G
gnomAD v3:
21:44287085 C / G
gnomAD v4:
chr21-44287085-C-G
Joint Max Group AF 0.00031016 (AFR)
Genomes Max Group AF 0.00024158 (AFR)
Exomes Max Group AF 0.00029944 (AFR)
ClinVar RCV:
RCV002933996
ClinVar Variation:
2066266
dbSNP:
121434256
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287085C>G , CM000683.2:g.44287085C>G GRCh38
NC_000021.8:g.45706968C>G , CM000683.1:g.45706968C>G GRCh37
NC_000021.7:g.44531396C>G NCBI36
NG_009556.1:g.6206C>G , LRG_18:g.6206C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.415C>G MANE Select ENSP00000291582.5:p.Arg139Gly
ENST00000291582.5:c.415C>G ENSP00000291582.5:p.Arg139Gly
ENST00000527919.5:n.576C>G
ENST00000530812.5:n.584C>G
NM_000383.3:c.415C>G NP_000374.1:p.Arg139Gly
XM_011529551.1:c.415C>G XP_011527853.1:p.Arg139Gly
NM_000383.4:c.415C>G MANE Select NP_000374.1:p.Arg139Gly
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